Varaico: Literature-Extracted Genetic Variants

Gene:ERV3-1
Variant:p.L7L
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ERV3-1

NM_001007253.4:p.L7L

Associated Papers

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.

Wang T et al.

Frontiers in Pediatrics, 2021

Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.

De Rosa MC et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Site-directed mutagenesis and use of bile acid-MTS conjugates to probe the role of cysteines in the human apical sodium-dependent bile acid transporter (SLC10A2).

Banerjee A et al.

Biochemistry, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."